DisGeNET - a database of gene-disease associations

HPSE2, heparanase 2 (inactive), 60495

N. diseases: 81; N. variants: 46

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs12570188

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0264408
Disease:

Childhood asthma

0.800

GeneticVariation

GWASCAT

Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.

23829686

2013

dbSNP:

rs12570188

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0264408
Disease:

Childhood asthma

0.800

GeneticVariation

GWASDB

Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.

23829686

2013

dbSNP:

rs10786436

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0011854
Disease:

Diabetes Mellitus, Insulin-Dependent

0.800

GeneticVariation

GWASDB

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

21980299

2011

dbSNP:

rs10786436

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0011854
Disease:

Diabetes Mellitus, Insulin-Dependent

0.800

GeneticVariation

GWASCAT

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

21980299

2011

dbSNP:

rs267606865

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0403555
Disease:

Ochoa syndrome

0.710

GeneticVariation

BEFREE

A twin pair with UFS was found to be homozygous for c.457C>T (p.Arg153*) mutation.

25924634

2015

dbSNP:

rs267606865

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0403555
Disease:

Ochoa syndrome

0.710

CausalMutation

CLINVAR

dbSNP:

rs72838936

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0201899
Disease:

Aspartate aminotransferase measurement

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs10509724

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs10748739

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs10883130

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs10883134

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11189692

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11189692

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs12219674

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs17459507

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs17538604

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2018085

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs489611

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs521390

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs523205

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs526698

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs526877

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs527822

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs537851

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs541519

Entrez Id:	60495
Gene Symbol:	HPSE2

HPSE2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017